CONGENITAL ENCEPHALO-OPHTHALMIC DYSPLASIA

Encephalitis is a major cause of morbidity and mortality worldwide. The clinical syndrome of encephalitis consists of altered mental status, seizures, neurologic signs, and is often accompanied by fever, headache, nausea, and vomiting. The encephalitis in children has been known that more common than in adult, with the incidence rate of infants was 3.9 times higher than that of people 20-44 years of age. The reported incidence of hospitalization attributed to paediatric encephalitis ranged from 3 to 13 admissions per 100,000 children per year with the overall mortality ranging from 0 to 7%. There are however more than 100 pathogens that can cause encephalitis and accurate diagnosis is challenging. Over 50% of patients with encephalitis are left undiagnosed despite extensive laboratory investigations. Furthermore, recent studies in high-income settings have suggested autoimmune encephalitis has now surpassed infectious aetiologies, mainly due to increased awareness and diagnostic capacity, which further challenges routine diagnosis and clinical management, especially in developing countries. There are limited contemporary data on the causes of encephalitis in children in Vietnam. Improving our knowledge of the causative agents of encephalitis in this resource-constrained setting remains critical to informing case management, resource distribution and vaccination strategy. Therefore, we conduct a prospective observational study to characterise the clinical, microbiological, and epidemiological features of encephalitis in a major children’s hospital in southern Vietnam. Admission clinical samples will be collected alongside meta clinical data and from each study participants. A combination of classical assays (serology and PCR) and metagenomic next-generation sequencing will used to identify the causative agents. Undiagnosed patients with clinical presentations compatible with autoimmune encephalitis will then be tested for common forms of the disease. Finally, using direct- and indirect costs, we will estimate the economic burden of hospitalization and seven days post hospital discharge of paediatric encephalitis in our setting.

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Identification and Distribution of Causative Agents of Pleurisy in the Brazilian Pig Farming

Acta Scientiae Veterinariae ◽

10.22456/1679-9216.85627 ◽

2018 ◽

Vol 46 (1) ◽

pp. 8

Author(s):

Enio Rivelino Maria Nascimento ◽

Ricardo Zanella ◽

Lucas Fernando Dos Santos ◽

Rosalí Ebertz ◽

Diego Finamor Nascimento ◽

...

Keyword(s):

Bacterial Infections ◽

Pasteurella Multocida ◽

The State ◽

Economic Losses ◽

Swine Industry ◽

Tissue Samples ◽

Commercial Laboratory ◽

Stage Of Development ◽

Causative Agents ◽

Clinical Cases

Background: Pleurisy is defined as an inflammation of the pleural membranes, usually caused by bacterial infections. It is considered the second most common reason for condemnations of swine carcass during slaughter. Prior to slaughter, pleurisy can causes discomfort to the animals, and during the slaughter, the carcass from affected animals, has to be trimmed, reducing the value to both the farmer and the plant, increasing the costs of disposal, and line speeds are reduced, increasing processing costs. The objective of this study was to verify the prevalence and to identify the bacterial agents associated with pleurisy lesions in pigs.Materials, Methods & Results: In this study, were used tissue samples from 4,536 piglets collected from the main swine producing regions of Brazil between the years 2013/2014. Samples were collected from animals that presented respiratory, enteric or nervous symptoms. Samples were sent to pathology and bacteriology examinations in a commercial laboratory. The pathogen isolates were classified according to the agent Pasteurella multocida (P. multocida), Haemophilus parasuis (HPS), Streptococcus suis (S. Suis), Actinobacillus pleuropneumoniae (APP) and Bordetella bronchiseptica (BB) stage of development and regional location of the case. Data were analyzed based on the frequency according to the age group using Fisher-test. Of the total number of animals with clinical cases investigated in this study, 10.63% of them presented pleurisy lesions. When investigating the pleurisy frequency among the states or regions, we have observed that the state of Santa Catarina had the higher prevalence of pleurisy with 35.06% of cases, followed by the state of Minas Gerais with 35.31%, Rio Grande do Sul with 17.22% Paraná with 9.75% and the Midwest region had the lower prevalence with 6.02% of cases. Out of the total isolates, HPS were isolated in 55.0% of the total; P. multocida 31.0%; S. suis 7.0%; APP 6.0% and BB 1.0%. The higher prevalence of HPS was identified in southern states, while in MG, Southeast and Midwest there was equality between HPS and P. multocida isolations. The prevalence of HPS (P < 0.05) was in the nursery phase. P. multocida and APP prevailed in the growth and fattening phases.Discussion: In the swine industry, respiratory problems are responsible for huge economic losses caused to the animals, including treatment, condemnation of carcass up to the death of the animal, without including the animal pain and discomfort condition. Our data support the previous findings that P. multocida, was observed in higher frequency in the phase of growth (54.08%) and finishing (29.85%), being responsible to 83.93% of the cases in those phases. Therefore it could be considered the most economically important agent, since the HPS lesions are repaired over time, having low identification at later ages and slaughter of the pig. Similar findings were observed with APP. The S. suis and BB have been identified in sporadic forms. Knowing the possible agente causing the lesion based on the animal age and country region it is easier to predict with higher chances better management techniques to prevent the pathogen occurrence or even indicate a better treatment to reduce the lesion levels. Our data supported hypotheses of the identification of clinical cases and the animal growth stage for the most accurate classification for the success of animal treatment.

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Study protocol: The clinical features, epidemiology, and causes of paediatric encephalitis in southern Vietnam

Wellcome Open Research ◽

10.12688/wellcomeopenres.16770.1 ◽

2021 ◽

Vol 6 ◽

pp. 133

Author(s):

Nguyen Hoang Thien Huong ◽

Nguyen Duc Toan ◽

Du Tuan Quy ◽

Truong Huu Khanh ◽

Le Quoc Thinh ◽

...

Keyword(s):

Autoimmune Encephalitis ◽

Indirect Costs ◽

Vaccination Strategy ◽

Altered Mental Status ◽

Clinical Syndrome ◽

Clinical Samples ◽

Southern Vietnam ◽

Causative Agents ◽

Incidence Of Hospitalization ◽

Study Participants

Encephalitis is a major cause of morbidity and mortality worldwide. The clinical syndrome of encephalitis consists of altered mental status, seizures, neurologic signs, and is often accompanied by fever, headache, nausea, and vomiting. The encephalitis in children has been known that more common than in adult, with the incidence rate of infants was 3.9 times higher than that of people 20-44 years of age. The reported incidence of hospitalization attributed to paediatric encephalitis ranged from 3 to 13 admissions per 100,000 children per year with the overall mortality ranging from 0 to 7%. There are however more than 100 pathogens that can cause encephalitis and accurate diagnosis is challenging. Over 50% of patients with encephalitis are left undiagnosed despite extensive laboratory investigations. Furthermore, recent studies in high-income settings have suggested autoimmune encephalitis has now surpassed infectious aetiologies, mainly due to increased awareness and diagnostic capacity, which further challenges routine diagnosis and clinical management, especially in developing countries. There are limited contemporary data on the causes of encephalitis in children in Vietnam. Improving our knowledge of the causative agents of encephalitis in this resource-constrained setting remains critical to informing case management, resource distribution and vaccination strategy. Therefore, we conduct a prospective observational study to characterise the clinical, microbiological, and epidemiological features of encephalitis in a major children’s hospital in southern Vietnam. Admission clinical samples will be collected alongside meta clinical data and from each study participants. A combination of classical assays (serology and PCR) and metagenomic next-generation sequencing will used to identify the causative agents. Undiagnosed patients with clinical presentations compatible with autoimmune encephalitis will then be tested for common forms of the disease. Finally, using direct- and indirect costs, we will estimate the economic burden of hospitalization and seven days post hospital discharge of paediatric encephalitis in our setting.

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The Utility of Next-Generation Sequencing for Identifying the Genetic Basis of Dementia

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18168520 ◽

2021 ◽

Vol 18 (16) ◽

pp. 8520

Author(s):

Aleksandra Klimkowicz-Mrowiec ◽

Anna Dziubek ◽

Małgorzata Sado ◽

Marek Karpiński ◽

Agnieszka Gorzkowska

Keyword(s):

Next Generation Sequencing ◽

Genetic Analysis ◽

Genetic Factor ◽

Genetic Basis ◽

Clinical Symptoms ◽

Clinical Manifestations ◽

Clinical Syndrome ◽

Next Generation ◽

Early Onset Dementia ◽

Generation Sequencing

The clinical manifestations of dementia are often rapidly matched to a specific clinical syndrome, but the underlying neuropathology is not always obvious. A genetic factor often plays an important role in early onset dementia, but there are cases in which the phenotype has a different genetic basis than is assumed. Two patients, at different times, presented to the Memory Clinic because of memory problems and difficulty in performing daily activities and work. Neither caregiver complained of marked behavioural or personality changes, except for apathy. Patients underwent standard dementia evaluation procedures including clinical symptoms, family history, neuroimaging, neuropsychological evaluation, and genetic analysis of selected genes. Based on specific clinical phenotypes and genetic analysis of selected genes, both patients were diagnosed with frontal variant of Alzheimer’s disease. The presence of a rare polymorphism in PSEN2 in both patients allowed the discovery that they belong to the same family. This fact reinforced the belief that there is a strong genetic factor responsible for causing dementia in the family. Next-generation sequencing based on a panel of 118 genes was performed to identify other potential genetic factors that may determine the background of the disease. A mutation in the GRN gene was identified, and the previous diagnosis was changed to frontotemporal dementia. The described cases show how important it is to combine all diagnostic tests available in the diagnostic centre, including new generation genetic tests, in order to establish/confirm the pathological background of clinical symptoms of dementia. If there is any doubt about the final diagnosis, persistent efforts should be made to verify the cause.

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